Canonical Allele Identifier: CA843998714
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1974955
ClinVar RCV Id: RCV002746372
dbSNP Id: rs1342107999
gnomAD v3: 7-94404826-C-T
gnomAD v4: 7-94404826-C-T
MyVariant Identifiers: chr7:g.94034138C>T (hg19) chr7:g.94404826C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404826C>T , CM000669.2:g.94404826C>T GRCh38
NC_000007.13:g.94034138C>T , CM000669.1:g.94034138C>T GRCh37
NC_000007.12:g.93872074C>T NCBI36
NG_007405.1:g.15266C>T , LRG_2:g.15266C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.379-13C>T MANE Select ENSP00000297268.6:n.379-13C>T
ENST00000297268.10:c.379-13C>T ENSP00000297268.6:n.379-13C>T
ENST00000620463.1:c.373-13C>T ENSP00000477719.1:n.373-13C>T
NM_000089.3:c.379-13C>T , LRG_2t1:c.379-13C>T NP_000080.2:n.379-13C>T
NM_000089.4:c.379-13C>T MANE Select NP_000080.2:n.379-13C>T
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